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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Seckel syndrome 2
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Accession:DOID:0070013 term browser browse the term
Definition:A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. (DO)
Synonyms:exact_synonym: Bird-headed dwarfism 2;   Microcephalic primordial dwarfism 2;   SCKL2
 broad_synonym: Seckel-type dwarfism 2
 related_synonym: RBBP8-related disorders
 primary_id: MESH:C537534
 alt_id: OMIM:606744
For additional species annotation, visit the Alliance of Genome Resources.


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Seckel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18174396 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Seckel syndrome 2
ClinVar Annotator: match by term: RBBP8-Related Disorders
ClinVar Annotator: match by OMIM:606744
OMIM
ClinVar
PMID:11781686 PMID:18414213 PMID:24389050 NCBI chr18:3,134,630...3,227,702
Ensembl chr18:3,162,543...3,227,688
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      Seckel syndrome 13
        Seckel syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal dominant disease 3032
                complex cortical dysplasia with other brain malformations 703
                  Malformations of Cortical Development, Group I 560
                    microcephaly 408
                      Seckel syndrome 2 2
paths to the root